MCID: DYS098
MIFTS: 38

Dystonia-11, Myoclonic malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Dystonia-11, Myoclonic

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Aliases & Descriptions for Dystonia-11, Myoclonic:

Name: Dystonia-11, Myoclonic 50
Myoclonic Dystonia 22 46 23 24 68 48 66
Hereditary Essential Myoclonus 22 46 23 24
Myoclonus-Dystonia 22 46 23 24
Dyt11 46 23 24 68
Myoclonus-Dystonia Syndrome 46 24 68
Dystonia, Myoclonic 23 25 12
Alcohol-Responsive Dystonia 24 68
 
Dystonia 11 22 23
Myoclonus, Hereditary Essential 46
Dystonia, Alcohol Responsive 46
Dystonia 11, Myoclonic 68
Dystonia-11 68
Myoclonus 37
Dyt-Sgce 46

Characteristics:

HPO:

62
dystonia-11, myoclonic:
Inheritance: autosomal dominant inheritance
Onset and clinical course: juvenile onset, incomplete penetrance


Classifications:



External Ids:

OMIM50 159900
MedGen35 C1834570

Summaries for Dystonia-11, Myoclonic

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Genetics Home Reference:24 Myoclonus-dystonia is a movement disorder that typically affects the upper half of the body. Individuals with this condition experience quick, involuntary muscle jerking or twitching (myoclonus) that usually affects their arms, neck, and trunk. Less frequently, the legs are involved as well. More than half of affected individuals also develop dystonia, which is a pattern of involuntary muscle contractions that causes twisting and pulling movements of specific body parts. The dystonia associated with myoclonus-dystonia may affect a single part of the body, causing isolated problems such as a writer's cramp in the hand, or it may involve multiple areas of the body. Rarely, people with this condition have dystonia as their only symptom.

MalaCards based summary: Dystonia-11, Myoclonic, also known as myoclonic dystonia, is related to dystonia 26, myoclonic and dystonia, and has symptoms including muscular hypotonia, torticollis and depression. An important gene associated with Dystonia-11, Myoclonic is SGCE (Sarcoglycan Epsilon). Affiliated tissues include cerebellum, and related mouse phenotype muscle.

OMIM:50 Myoclonus-dystonia is a genetically heterogeneous disorder characterized by myoclonic jerks affecting mostly proximal... (159900) more...

UniProtKB/Swiss-Prot:68 Dystonia 11, myoclonic: A myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable.

GeneReviews summary for NBK1414

Related Diseases for Dystonia-11, Myoclonic

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Graphical network of the top 20 diseases related to Dystonia-11, Myoclonic:



Diseases related to dystonia-11, myoclonic

Symptoms for Dystonia-11, Myoclonic

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Symptoms by clinical synopsis from OMIM:

159900

Clinical features from OMIM:

159900

HPO human phenotypes related to Dystonia-11, Myoclonic:

(show all 9)
id Description Frequency HPO Source Accession
1 muscular hypotonia rare (5%) HP:0001252
2 torticollis HP:0000473
3 depression HP:0000716
4 obsessive-compulsive behavior HP:0000722
5 anxiety HP:0000739
6 agoraphobia HP:0000756
7 myoclonus HP:0001336
8 tremor HP:0001337
9 writer's cramp HP:0002356

UMLS symptoms related to Dystonia-11, Myoclonic:


myoclonus, torticollis, tremor

Drugs & Therapeutics for Dystonia-11, Myoclonic

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Drugs for Dystonia-11, Myoclonic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ZonisamidePhase 36768291-97-45734
Synonyms:
1,2-Benzisoxazole-3-methanesulfonamide
1,2-benzoxazol-3-ylmethanesulfonamide
1-(1,2-Benzoxazol-3-Yl)methanesulfonamide
1-(1,2-benzisoxazol-3-yl)methanesulfonamide
3-(Sulfamoylmethyl)-1,2-benzisoxazole
3-sulfamoylmethyl-1,2-benzisoxazole
68291-97-4
AC-1413
AC1L1L0Q
AC1Q55GQ
AD 810
AD-810
AD-810N
AKOS001312269
BIDD:GT0708
BIDD:PXR0183
BRD-K48300629-001-03-8
BRN 1077076
Benzo[D]isoxazol-3-yl-methanesulfonamide
Bio-0532
C022189
C07504
C8H8N2O3S
CHEBI:10127
CHEMBL750
CI 912
CI-912
CID5734
CPD000596519
D00538
DB00909
E-2090
Elan brand of zonisamide
Exceglan
 
Excegram
Excegran
Excegran (TN)
FT-0082702
HMS2089O07
HSDB 7293
I06-0495
LS-33637
MLS001195632
MLS001306491
MolPort-002-507-855
NCGC00159319-02
NCGC00159319-03
PD 110843
PD-110843
S1445_Selleck
SAM002548957
SMR000596519
SPR_2
STK711131
Tremode
Trerief
UNII-459384H98V
ZINC00004321
Zonegran
Zonegran, Zonisamide
Zonisamida
Zonisamida [Spanish]
Zonisamide (JAN/USAN/INN)
Zonisamide (ZNS)
Zonisamide [USAN:BAN:INN:JAN]
Zonisamidum
Zonisamidum [Latin]
zonisamide
zonisamide monosodium
2
PromethazinePhase 221760-87-74927
Synonyms:
(2-Dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine
(2-dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine
(Dimethylamino-2-propyl-10-phenothiazine hydrochloride
10-(2-(Dimethylamino)-2-methylethyl)phenothiazine
10-(2-(Dimethylamino)propyl)phenothiazine
10-(2-Dimethylaminopropyl)phenothiazine
10-[2-(Dimethylamino)propyl]phenothiazine
10-[2-(dimethylamino)Propyl]phenothiazine
10H-Phenothiazine-10-ethanamine, N,N,alpha-trimethyl- (9CI)
10H-Phenothiazine-10-ethanamine, N,N,alpha-trimethyl-, radical ion(1+)
3277 RP
3389 R.p.
38878-40-9
4-27-00-01253 (Beilstein Handbook Reference)
4182 R.p.
60-87-7
73745-50-3
A-91033
AB00053535
AC-15939
AC1L1J92
Antiallersin
Aprobit
Avomine
BPBio1_000744
BRN 0088554
BSPBio_000676
BSPBio_002777
C07404
CCRIS 7056
CHEBI:8461
CHEMBL643
CID4927
Camergan
D00494
DB01069
Dimapp
Dimethylamino-isopropyl-phenthiazin
Dimethylamino-isopropyl-phenthiazin [German]
Diphergan
Diprazin
Diprazine
Diprozin
DivK1c_000005
EINECS 200-489-2
Fargan
Fenazil
Fenetazina
Fenetazine
Genphen
HMS2089E08
HSDB 3173
Hiberna
Histargan
IDI1_000005
Iergigan
InChI=1/C17H20N2S/c1-13(18(2)3)12-19-14-8-4-6-10-16(14)20-17-11-7-5-9-15(17)19/h4-11,13H,12H2,1-3H3
Isophenergan
Isopromethazine
KBio1_000005
KBio2_001348
KBio2_003916
KBio2_006484
KBio3_001997
KBioGR_001697
KBioSS_001348
L000495
LS-264
Lercigan
Lergigan
Lilly 01516
Lilly 1516
Lopac0_000899
Metaryl
MolPort-001-783-684
N,N,alpha-Trimethyl-10H-phenothiazine-10-ethanamine
N,N,╬▒-trimethyl-10H-phenothiazine-10-ethanamine
N,N-dimethyl-1-(10H-phenothiazin-10-yl)propan-2-amine
N,N-dimethyl-1-phenothiazin-10-ylpropan-2-amine
 
N,N-dimethyl-1-phenothiazin-10-ylpropan-2-amine hydrochloride
N-(2'-Dimethylamino-2'-methyl)ethylphenothiazine
N-(2'-dimethylamino-2'-Methyl)ethylphenothiazine
N-Dimethylamino-2-methylethyl thiodiphenylamine
NCGC00015817-10
NCGC00089735-02
NCGC00089735-03
NCI-C60673
NCI60_001878
NINDS_000005
NSC 30321
NSC30321
Oprea1_758749
PROMETHAZINE (SEE ALSO PROMETHAZINE HYDROCHLORIDE 58-33-3)
Pelpica
Phargan
Phenargan
Phenerzine
Phenoject-50
Phensedyl
Pilothia
Pilpophen
Pipolphene
Prestwick0_000888
Prestwick1_000888
Prestwick2_000888
Prestwick3_000888
Pro-50
Proazaimine
Proazamine
Procit
Promacot
Promazinamide
Promergan
Promesan
Prometasin
Prometazin
Prometazina
Prometazina [INN-Spanish]
Prometazine
Prometh
Promethacon
Promethaine
Promethazin
Promethazine
Promethazine (JAN/INN)
Promethazine [INN:BAN]
PromethazineHcl
Promethazinum
Promethazinum [INN-Latin]
Promethegan
Promethiazine
Promezathine
Prorex
Protazine
Prothazin
Prothazine
Provigan
Pyrethia
Pyrethiazine
RP 3277
Remsed
Romergan
Rumergan
SKF 1498
SPBio_000799
SPBio_002895
Spectrum2_000840
Spectrum3_001019
Spectrum4_001149
Spectrum5_000977
Spectrum_000868
Tanidil
Thiergan
UNII-FF28EJQ494
Valergine
Vallergine
WLN: T C666 BN ISJ B1Y1&N1&1
WY 509
Zipan-25
promethazine
3
DiphenhydraminePhase 221758-73-1, 147-24-03100
Synonyms:
147-24-0
147-24-0 (HYDROCHLORIDE)
2-(Benzhydryloxy)-N,N-dimethylethylamine
2-(Benzhydryloxy)-N,N-dimethylethylamine, hydrochloride
2-(Diphenylmethoxy)-N,N-dimethylethylamine
2-(diphenylmethoxy)-N,N-dimethylethanamine
2-Diphenylmethoxy-N,N-dimethylethylamine
2-[(diphenylmethyl)oxy]-N,N-dimethylethanamine
2-benzhydryloxy-N,N-dimethylethanamine
2-benzhydryloxyethyl-N,N-dimethylammonium
2-diphenylmethoxy-N,N-demthylethanamine
2PM
58-73-1
88637-37-0 (citrate (1:1))
AB00053460
AC-13704
AC1L1F65
AKOS003658554
Aleryl
Alledryl
Aller-Med
Allerdryl
Allergan
Allergan B
Allergeval
Allergical
Allergina
Allergival
Allermax Caplets
Amidryl
Antistominum
Antitussive
Antomin
Automin
BENADRYL HCl
BIDD:GT0152
BPBio1_000275
BRD-K47278471-003-05-7
BRN 1914136
BSPBio_000249
BSPBio_002219
Bagodryl
Banophen
Banophen Caplets
Baramine
Beldin
Belix
Ben-allergin
Bena
Benachlor
Benadrin
Benadryl
Benadryl (hydrochloride)
Benadryl Allergy
Benapon
Bendylate
Benhydramin
Benodin
Benodine
Benylan
Benylin
Benzantin
Benzantine
Benzhydramine
Benzhydraminum
Benzhydril
Benzhydroamina
Benzhydryl
Betramin
CAS-147-24-0
CCRIS 1959
CHEBI:127629
CHEBI:4636
CHEMBL657
CID3100
CPD-10890
Compoz
D00300
DB01075
DB06975
DIPHENHYDRAMINE, ANTISTOMINUM, BENZHYDRAMINE
Dabylen
Debendrin
Dermistina
Dermodrin
Desentol
Diabenyl
Diabylen
Dibendrin
Dibenil
Dibondrin
Difedryl
Difenhidramina
Difenhidramina [INN-Spanish]
Difenhydramin
Difenhydramine
Difenidramina
Difenidramina [Italian]
Dihidral
Dimedrol
Dimedrol base
Dimedrolum
Dimedryl
Dimehydrinate
Dimethylamine benzhydryl ester
Diphamine
Diphantine
Diphen
 
Diphen Cough
Diphenhist
Diphenhist Captabs
Diphenhydramine
Diphenhydramine (JP15/INN)
Diphenhydramine Base
Diphenhydramine HCl
Diphenhydramine [INN:BAN:JAN]
Diphenhydraminum
Diphenhydraminum [INN-Latin]
Diphenylhydramin
Diphenylhydramine
DivK1c_000368
Dobacen
Dormarex 2
Dryistan
Drylistan
Dylamon
EINECS 200-396-7
Etanautine
FAR 90X2
Genahist
HMS2089E06
HSDB 3066
Histaxin
Hyadrine
Hydramine
Hyrexin
I14-6749
IDI1_000368
Ibiodral
KBio1_000368
KBio2_001460
KBio2_004028
KBio2_006596
KBio3_001439
KBioGR_001099
KBioSS_001460
L000227
LS-68208
Lopac-D-3630
Lopac0_000377
MLS002222276
Medidryl
Mephadryl
MolPort-001-783-508
N,N-Dimethyl-2-(diphenylmethoxy)-ethylamine hydrochloride
N-(2-(Diphenylmethoxy)ethyl)-N,N-dimethylamine
N-(Benzhydryloksy-etylo)dwumetyloamina
N-(Benzhydryloksy-etylo)dwumetyloamina [Polish]
N-[2-(BENZHYDRYLOXY)ETHYL]-N,N-DIMETHYLAMINE
NCGC00015335-01
NCGC00015335-02
NCGC00015335-03
NCGC00015335-10
NCGC00024414-03
NCGC00024414-04
NCI60_002916
NCI60_022782
NINDS_000368
NSC665800
Nausen
Nervine Nighttime Sleep-Aid
Novamina
Nytol Quickcaps
Nytol Quickgels
O-Benzhydryldimethylaminoethanol
O-benzhydryldimethylaminoethanol
Oprea1_254625
PM 255
Prestwick0_000065
Prestwick1_000065
Prestwick2_000065
Prestwick3_000065
Probedryl
Restamin
Restamin (TN)
Rigidil
S51
SMR001307259
SPBio_000961
SPBio_002170
STK103720
STOCK2S-94461
Siladryl
Silphen
Sleep-Eze D
Sleep-Eze D Extra Strength
Spectrum2_000961
Spectrum3_000400
Spectrum4_000520
Spectrum5_000915
Spectrum_000980
Syntedril
Syntodril
TL8003758
Twilite Caplets
UNII-8GTS82S83M
Unisom Sleepgels Maximum Strength
alpha-(2-Dimethylaminoethoxy)diphenylmethane
beta-Dimethylamino-aethyl-benzhydryl-aether
beta-Dimethylamino-aethyl-benzhydryl-aether [German]
beta-Dimethylaminoethanol diphenylmethyl ether
beta-Dimethylaminoethyl benzhydryl ether
beta-Dimethylaminoethylbenzhydrylether
beta-dimethylaminoethyl benzhydryl ether
diphenhydramine
nchembio747-comp18
╬▓-dimethylaminoethyl benzhydryl ether

Interventional clinical trials:

idNameStatusNCT IDPhase
1Efficacy Trial of Zonisamide for Myoclonus DystoniaCompletedNCT01806805Phase 3
2Pilot Efficacy Study of T2000 in Myoclonus DystoniaTerminatedNCT00506012Phase 2
3Abnormal Movements, Cerebellum and Sensorimotor : Oculomotor StudyCompletedNCT01495897
4The Dystonia Coalition Natural History and Biospecimen Repository for Isolated DystoniasRecruitingNCT01373424

Search NIH Clinical Center for Dystonia-11, Myoclonic


Cochrane evidence based reviews: myoclonus

Genetic Tests for Dystonia-11, Myoclonic

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Genetic tests related to Dystonia-11, Myoclonic:

id Genetic test Affiliating Genes
1 Myoclonic Dystonia25
2 Dystonia, Myoclonic23 DRD2
3 Myoclonus-Dystonia23 SGCE

Anatomical Context for Dystonia-11, Myoclonic

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MalaCards organs/tissues related to Dystonia-11, Myoclonic:

34
Cerebellum

Animal Models for Dystonia-11, Myoclonic or affiliated genes

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MGI Mouse Phenotypes related to Dystonia-11, Myoclonic:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7DRD2, SGCE, TOR1A

Publications for Dystonia-11, Myoclonic

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Variations for Dystonia-11, Myoclonic

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UniProtKB/Swiss-Prot genetic disease variations for Dystonia-11, Myoclonic:

68 (show all 13)
id Symbol AA change Variation ID SNP ID
1SGCEp.Leu196ArgVAR_026750rs121908491
2SGCEp.Thr36ArgVAR_066732
3SGCEp.His60ProVAR_066733
4SGCEp.His60ArgVAR_066734
5SGCEp.Met92ThrVAR_066735
6SGCEp.Trp100GlyVAR_066736
7SGCEp.Gly112ArgVAR_066737
8SGCEp.Tyr115CysVAR_066738
9SGCEp.Leu175SerVAR_066739
10SGCEp.Ser177CysVAR_066740
11SGCEp.Leu184ProVAR_066741
12SGCEp.Trp270ArgVAR_066742
13SGCEp.Cys271TyrVAR_066743rs372686312

Clinvar genetic disease variations for Dystonia-11, Myoclonic:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_003919.2(SGCE): c.771_772delAT (p.Cys258Terfs)deletionPathogenicrs794727794GRCh37Chr 7, 94232655: 94232656
2NM_003919.2(SGCE): c.289C> T (p.Arg97Ter)single nucleotide variantPathogenicrs121908489GRCh37Chr 7, 94257615: 94257615
3NM_003919.2(SGCE): c.304C> T (p.Arg102Ter)single nucleotide variantPathogenicrs121908490GRCh37Chr 7, 94257600: 94257600
4SGCESGCE, 1-BP DEL, 565AdeletionPathogenic
5SGCESGCE, 97-BP DELdeletionPathogenic
6NM_003919.2(SGCE): c.835_839delACAAA (p.Thr279Alafs)deletionPathogenicrs863223283GRCh38Chr 7, 94600844: 94600848
7NM_003919.2(SGCE): c.587T> G (p.Leu196Arg)single nucleotide variantPathogenicrs121908491GRCh37Chr 7, 94248145: 94248145
8NM_003919.2(SGCE): c.884dupT (p.Leu295Phefs)duplicationPathogenicrs863223284GRCh37Chr 7, 94230111: 94230111
9SGCESGCE, 1-BP DEL, 974CdeletionPathogenic
10NM_003919.2(SGCE): c.1114C> T (p.Arg372Ter)single nucleotide variantPathogenicrs121908492GRCh37Chr 7, 94228226: 94228226
11NM_003919.2(SGCE): c.464_662del199deletionPathogenicGRCh38Chr 7, 94604254: 94619273
12SGCESGCE, 6,872-BP DEL, EX6DELdeletionPathogenic
13NM_003919.2(SGCE): c.619_620delAG (p.Arg207Glyfs)deletionPathogenicrs863223285GRCh38Chr 7, 94618800: 94618801

Copy number variations for Dystonia-11, Myoclonic from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
122916578800000097900000DeletionDLX5Myoclonus-dystonia
222916678800000097900000DeletionDLX6Myoclonus-dystonia
322916778800000097900000DeletionKRIT1Myoclonus-dystonia
422916878800000097900000DeletionSHFM1Myoclonus-dystonia

Expression for genes affiliated with Dystonia-11, Myoclonic

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Search GEO for disease gene expression data for Dystonia-11, Myoclonic.

Pathways for genes affiliated with Dystonia-11, Myoclonic

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GO Terms for genes affiliated with Dystonia-11, Myoclonic

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Cellular components related to Dystonia-11, Myoclonic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoskeletonGO:00058569.3SGCE, TOR1A
2dendriteGO:00304259.0DRD2, SGCE

Biological processes related to Dystonia-11, Myoclonic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of dopamine uptake involved in synaptic transmissionGO:00515849.1DRD2, TOR1A

Sources for Dystonia-11, Myoclonic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet